TGFBR1*6A Polymorphism in Sporadic and Familial Colorectal Carcinoma: a Case-control Study and Systematic Literature Review

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• 作者：Tony Ibrahim (1)
  Charbel Yazbeck (2)
  Georges Maalouly (3)
  Maria Baz (3)
  Fady Haddad (3)
  Chadi Sabbagh (4)
  Georges Chahine (1)
  
• 关键词：Transforming growth factor ; TGFBR1*6A ; Sporadic colorectal cancer ; Polymorphism ; Familial colorectal cancer
• 刊名：Journal of Gastrointestinal Cancer
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：45
• 期：4
• 页码：441-447
• 全文大小：215 KB
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  10. Carvajal-Carmona LG, Churchman M, Bonilla C, Walther A, Lefèvre JH, Kerr D, et al. Comprehensive assessment of variation at the transforming growth factor β type 1 receptor locus and colorectal cancer predisposition. Proc Natl Acad Sci U S A. 2010;107:7858-2. CrossRef
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  13. Pasche B, Kaklamani V, Hou N, Young T, Rademaker A, Peterlongo P, et al. TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies. J Clin Oncol. 2004;22:756-. CrossRef
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  15. Samowitz WS, Curtin K, Leppert MF, Slattery ML. Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer. Genes Chromosomes Cancer. 2001;32:381-. CrossRef
  16. Skoglund Lundin J, Vandrovcova J, Song B, Zhou X, Zelada-Hedman M, Werelius B, et al. TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk. Br J Cancer. 2009;100:1674-. CrossRef
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  18. Stefanovska AM, Efremov GD, Dimovski AJ, Jasar D, Zografski G, Josifovski T, et al. TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in Macedonian colorectal cancer patients. Correspondence re: B. Pasche et al. (1998) Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility Allele. Cancer Res 58:2727-32. Cancer Res. 2001;61:8351-.
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• 作者单位：Tony Ibrahim (1)
  Charbel Yazbeck (2)
  Georges Maalouly (3)
  Maria Baz (3)
  Fady Haddad (3)
  Chadi Sabbagh (4)
  Georges Chahine (1)
  
  1. Hemato-Oncology Department, Hotel Dieu de France teaching Hospital of Saint Joseph University, 11-5076, Riad El Solh-Beirut, 1107 2180, Beirut, Lebanon
  2. Gastro-Enterology Department, Notre Dame Du Secours teaching Hospital of Saint Esprit Kaslik University, Byblos, Lebanon
  3. Internal Medicine Department, Hotel Dieu de France teaching Hospital of Saint Joseph University, Beirut, Lebanon
  4. Emergency Department, Hotel Dieu de France teaching Hospital of Saint Joseph University, Beirut, Lebanon
  
• ISSN：1941-6636

文摘

Background The role of genetic factors in colorectal cancer pathogenesis is widely accepted. Polymorphisms are actually thought to play a role in the unexplained colorectal cancer (CRC) susceptibility. There is conflicting data regarding the role of the transforming growth factor beta receptor 1 polymorphism 6A (TGFBR1*6A) in the increased incidence of CRC. Purpose Our aim is to test the association between this polymorphism and sporadic/familial CRC in the Lebanese population paying attention to lead time bias in the control group. This is a case-control study conducted in two Lebanese hospital centers. Materials and Methods Cases were diagnosed with CRC during the period of 1?year prior to the study. Controls were healthy subjects aged >50?years with a history of normal colonoscopy during the period of 5?years prior to the beginning of the study. A total of 96 cases (57 sporadic/39 familial) and 97 controls were genotyped. The odds ratios for 6A carrier status was statistically significant for sporadic CRC, odds ratio (OR)--.314 (95?% confidence interval (CI) 1.030-.195) but not for familial CRC. Results No association was found between 6A carrier status and mean age at diagnosis of CRC. This is the first article in the literature to evaluate the association between 6A polymorphism and total, sporadic, and familial CRC in a single study with reduction of bias in the control group. Results are in conjunction with other studies and meta-analysis.